ICARE Social Media Post August 2020

Inherited Prostate Cancer Risk

Over 600,000 men age 40 and older who were part of a family with at least three consecutive generations affected with prostate cancer were studied from the Utah Population Database. Findings from this study showed that:

  • 36,000 had prostate cancer (5.9%)
  • 2,500 had early-onset disease (7%)
  • 4,000 had lethal disease (11.1%)
  • 15,000 had clinically significant disease (41.8%)

Investigators concluded: “In this large, population-based, family database, the risk of [prostate cancer] varied by cancer [family history] and was most strongly associated with [early-onset] disease. These results are critically valuable in understanding and targeting high-risk populations that would benefit from genetic screening and enhanced surveillance.”

Check out the original article at: https://ascopubs.org/doi/full/10.1200/JCO.19.02808

Check out the ASCO’s post about this article at: https://www.ascopost.com/news/april-2020/effect-of-familial-and-hereditary-cancer-syndromes-on-risk-of-prostate-cancer/




ICARE Social Media Post April 2020

PALB2: Cancer Risks and Risk Management

Gene: PALB2

Cancer Risks and Management (per NCCN version 1.2020):

Women:

Breast cancer risk: Elevated at 53% – Recommend annual breast MRI with contrast starting at age 30, and annual mammogram with consideration of tomosynthesis starting at age 30; Consider risk-reducing mastectomy.

Ovarian cancer risk: Elevated at 5% – Manage based on family history.

Men and Women:

Pancreatic cancer risk: Elevated at 2%-3% – Consider MRI/MRCP or endoscopic ultrasound for PALB2 carriers with a family history of pancreatic cancer in first-degree relative.

Men:

Breast cancer risk: Elevated at 1% – Manage same as general population.

Prostate cancer risk: Up to 20% – Recommend PSA screening and digital rectal exam starting at age 40.

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have a PALB2 mutation, the child is at risk for autosomal recessive Fanconi anemia.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the recent PALB2 article on cancer risks at https://ascopubs.org/doi/full/10.1200/JCO.19.01907 and the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf




ICARE Social Media Post April 2020

BRCA2: Cancer Risks and Risk Management

Gene: BRCA2

Cancer Risks and Management (per NCCN version 3.2019):

Women:

Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy.

Ovarian cancer risk: Up to 27% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes) between ages 40 and 45.

Men and Women:

Pancreatic cancer risk: Elevated – Consider MRI/MRCP or endoscopic ultrasound for BRCA2 carriers with a family history of pancreatic cancer in first-degree relative.

Men:

Breast cancer risk: Breast cancer risk: Elevated at 6%-8% – Recommend annual clinical breast exams starting at age 35.

Prostate cancer risk: Up to 20% – Recommend PSA screening and digital rectal exam starting at age 40.

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have a BRCA2 mutation, the child is at risk for autosomal recessive Fanconi anemia.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf




ICARE Social Media Post April 2020

BRCA1: Cancer Risks and Risk Management

Gene: BRCA1

Cancer Risks and Management (per NCCN version 3.2019):

Women:

Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy.

Ovarian cancer risk: Up to 44% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes) between ages 35 and 40.

Men and Women:

Pancreatic cancer risk: Elevated – Consider MRI/MRCP or endoscopic ultrasound for BRCA1 carriers with a family history of pancreatic cancer in first-degree relative.

Men:

Breast cancer risk: Elevated at 1.2% – Recommend annual clinical breast exams starting at age 35.

Prostate cancer risk: Up to 16% – Consider PSA screening and digital rectal exam starting at age 40.

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf




ICARE Social Media Post April 2020

EPCAM: Cancer Risks and Risk Management

Gene: EPCAM

Cancer Risks and Management (per NCCN version 3.2019):

Women:

Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy.

Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes).

Men and Women:

Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at age 20-25.

Gastric cancer risk: Elevated at 0.2%-16% – Consider upper endoscopy every 3-5 years beginning at age 40 for select EPCAM carriers (see NCCN for details).

Pancreatic cancer risk: Not well established – Consider MRI/MRCP or endoscopic ultrasound for EPCAM carriers with a family history of pancreatic cancer in first-degree relative.

Urothelial cancer risk: Elevated at 2%-18% – Consider urinalysis annually starting at age 30-35 for EPCAM carriers with a family history of urothelial cancer.

Men:

Prostate cancer risk: Elevated at 30%-32% – Manage same as general population.

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf and https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf




ICARE Social Media Post March 2020

PMS2: Cancer Risks and Risk Management

Gene: PMS2

Cancer Risks and Management (per NCCN version 3.2019):

Women:

Endometrial cancer risk: Elevated at 0%-15% – Consider risk-reducing hysterectomy.

Men and Women:

Colorectal cancer risk: Elevated at 12%-20% – Recommend colonoscopy every 1-2 years starting at age 20-25

Gastric cancer risk: Not well established – Consider upper endoscopy every 3-5 years beginning at age 40 for select PMS2 carriers (see NCCN for details).

Urothelial cancer risk: Not well established – Consider urinalysis annually starting at age 30-35 for PMS2 carriers with a family history of urothelial cancer.

Men:

Prostate cancer risk: Not well established – Manage same as general population.

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have an PMS2 mutation, the child is at risk for autosomal recessive ’Constitutional mismatch repair deficiency’ (CMMRD) syndrome with earlier and higher cancer risks.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf and https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf




ICARE Social Media Post March 2020

Study Based on ICARE Participants with ATM and CHEK2 Mutations

Women with ATM and CHEK2 mutations have a lifetime breast cancer risk greater than 20%, which is the threshold at which screening through a breast MRI is recommended. A recently published study based on ICARE participants with ATM and CHEK2 mutations suggested that most female family members of ATM and CHEK2 mutation carriers do not qualify for breast MRI screening based on family cancer history alone.

Specifically, results showed:

– Among 56 ATM carriers in ICARE, less than 25% of their close female relatives had a lifetime breast cancer risk >20% based on family cancer history alone.

– Among 69 CHEK2 carriers in ICARE, less than 15% of their female relatives had a lifetime breast cancer risk >20% based on family history alone.

This emphasizes the need to share positive ATM and CHEK2 test results with family members so they can consider undergoing genetic testing themselves, which could impact their eligibility for breast MRI screening.

For help sharing your positive genetic test results with your family members, visit: geneshare.net

Check out the full article at https://www.ncbi.nlm.nih.gov/pubmed/31967672




ICARE Social Media Post March 2020

MSH6: Cancer Risks and Risk Management

Gene: MSH6

Cancer Risks and Management (per NCCN version 3.2019):

Women:

Endometrial cancer risk: 17%-46% – Consider risk-reducing hysterectomy.

Ovarian cancer risk: 1%-11% – Evidence is insufficient to make specific recommendations.

Men and Women:

Colorectal cancer risk: 15%-44% – Recommend colonoscopy every 1-2 years starting at age 20-25.

Gastric cancer risk: 0%-5% – Consider upper endoscopy every 3-5 years beginning at age 40 for select MSH6 carriers (see NCCN for details).

Pancreatic cancer risk: Not well established – Consider MRI/MRCP or endoscopic ultrasound for MSH6 carriers with a family history of pancreatic cancer in first-degree relative.

Urothelial cancer risk: 0.2%-7% – Consider urinalysis annually starting at age 30-35 for MSH6 carriers with a family history of urothelial cancer.

Men:

Prostate cancer risk: Elevated at 0%-5% – Manage same as general population

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have an MSH6 mutation, the child is at risk for autosomal recessive ’Constitutional mismatch repair deficiency’ (CMMRD) syndrome with earlier and higher cancer risks.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf and https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf




ICARE Social Media Post March 2020

MSH2: Cancer Risks and Risk Management

Gene: MSH2

Cancer Risks and Management (per NCCN version 3.2019):

Women:

Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy.

Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes).

Men and Women:

Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at age 20-25.

Gastric cancer risk: Elevated at 0.2%-16% – Consider upper endoscopy every 3-5 years beginning at age 40 for select MSH2 carriers (see NCCN for details).

Pancreatic cancer risk: Not well established – Consider MRI/MRCP or endoscopic ultrasound for MSH2 carriers with a family history of pancreatic cancer in first-degree relative.

Urothelial cancer risk: Elevated at 2%-18% – Consider urinalysis annually starting at age 30-35 for MSH2 carriers with a family history of urothelial cancer.

Men:

Prostate cancer risk: Elevated at 30%-32% – Manage same as general population.

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have an MSH2 mutation, the child is at risk for autosomal recessive ’Constitutional mismatch repair deficiency’ (CMMRD) syndrome with earlier and higher cancer risks.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf and https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf




ICARE Social Media Post March 2020

MLH1: Cancer Risks and Risk Management

Gene: MLH1

Cancer Risks and Management (per NCCN version 3.2019):

Women:

Endometrial cancer risk: Elevated at 43%-57% – Consider risk-reducing hysterectomy.

Ovarian cancer risk: Elevated at 5%-20% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes).

Breast cancer risk: Elevated at 12%-17% – Manage same as general population.

Men and Women:

Colorectal cancer risk: Elevated at 46%-49% – Recommend colonoscopy every 1-2 years starting at age 20-25.

Gastric cancer risk: Elevated at 5%-7% – Consider upper endoscopy every 3-5 years beginning at age 40 for select MLH1 carriers (see NCCN for details).

Pancreatic cancer risk: Elevated at 6% – Consider MRI/MRCP or endoscopic ultrasound for MLH1 carriers with a family history of pancreatic cancer in first-degree relative.

Urothelial cancer risk: Elevated at 0.2%-5% – Consider urinalysis annually starting at age 30-35 for MLH1 carriers with a family history of urothelial cancer.

Men:

Prostate cancer risk: Elevated at 0%-17% – Manage same as general population.

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have an MLH1 mutation, the child is at risk for autosomal recessive Constitutional mismatch repair deficiency (CMMRD) syndrome.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend delaying genetic testing on minors until they are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf and https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf




ICARE Newsletter Winter 2020

New Study Based on ICARE Participants with ATM & CHEK2 Mutations

We are excited to tell you about our recently published results based solely on data from ICARE participants with ATM and CHEK2 mutations. Our findings suggest most female family members of ATM and CHEK2 mutation carriers do not qualify for breast MRI screening based on family cancer history alone. This emphasizes the need to share positive ATM and CHEK2 test results with family members so they can consider undergoing genetic testing themselves, which could impact their eligibility for breast MRI screening. Specifically, women with ATM and CHEK2 mutations have a lifetime breast cancer risk greater than 20%, which is the threshold at which screening through a breast MRI is recommended.  Results of our study showed:

  • Among 56 ATM carriers in ICARE, less than 25% of their close female relatives had a lifetime breast cancer risk >20% based on family cancer history alone.
  • Among 69 CHEK2 carriers in ICARE, less than 15% of their female relatives had a lifetime breast cancer risk >20% based on family history alone.

Consequently, testing in these female family members would identify those who were positive for the same ATM or CHEK2 mutation and therefore have a >20% risk for breast cancer, making them eligible for breast MRI screening.

1Weidner, et al. Cancer. 2020 Jan. PMID: 31967672.

 To help share test results with family members, check out our FREE online resource at: www.GeneSHARE.net




ICARE Social Media Post October 2019

Male Breast Cancer Risk

Did you know? Beyonce’s father, Matthew Knowles, was diagnosed with breast cancer. He states, “we used to think this was only an issue for women, but this is male or female.” According to CBS news, “he is hoping that sharing his story as man with breast cancer will shine a light on the risk men can face.”

Surprisingly, less than 20% of women diagnosed with breast cancer who are at high risk for a BRCA mutation are tested. Even lower rates of genetic testing are seen among African Americans, who are less aware of their risk for a BRCA mutation.

Let’s talk facts. All men with breast cancer should be offered BRCA testing. 6-8% of men with breast cancer will have a BRCA2 mutation. Matthew’s children have a 50/50 chance of inheriting this BRCA2 mutation. Women with the mutation, have a 60-70% risk to develop breast cancer. The BRCA2 gene raises the chance for ovarian cancer in women, aggressive prostate cancer in men and pancreatic cancer in both sexes. See our previous post about new targeted treatment options for cancer patients with a BRCA2 mutation.

Genetic testing for inherited cancer genes (such as BRCA1/2) can be done through a simple blood or saliva sample. Detecting a mutation allows people to be proactive about their health by finding cancer early or preventing it all together.  Check out resources to ‘end the cycle of inherited cancer through research, education, and engagement’ at http://inheritedcancer.net/




ICARE Newsletter Winter 2017

How Does Having a Mother with Breast Cancer and a BRCA Mutation Affect Adolescent Girls?

A recent study compared psychosocial adjustment and risk perception among 11 to 19 year old daughters of women with breast cancer, comparing those with a BRCA mutation versus those without.1 The overall findings from the study were reassuring, suggesting that adolescent girls from BRCA-positive families had higher self-esteem and similar psychosocial adjustment compared to their peers without a family history of breast cancer. On the other hand, not surprisingly, girls from BRCA-positive families experienced more distress related to breast cancer and being susceptible to the disease compared to girls without a family history of breast cancer. Overall, study findings suggest there remains a need to better understand how being from a BRCA-positive family may impact adolescent girls, in order to develop strategies which address any psychosocial concerns that may be demonstrated.

1Bradbury AR, et ak. Psychosocial Adjustment and Perceived Risk Among Adolescent Girls From Families With BRCA1/2 or Breast Cancer History. J Clin Oncol. 2016 Oct 1;34(28):3409-16. PubMed PMID: 27551110.




ICARE Newsletter Winter 2016

The Importance of Sharing Genetic Test Results with Family Members

Once an individual has had genetic testing for inherited cancer predisposition this information could help their close family members.  For example, when a BRCA mutation or a mutation in another inherited cancer gene is found, it is important for close family members (with or without a diagnosis of cancer) to know so they too can be proactive with cancer risk management and prevention options if they are identified to also have the familial mutation.  It is usually up to the first individual in the family identified with a mutation to share their positive genetic test result with their relatives.  Unfortunately, prior US-based studies suggest low rates of testing among at-risk family members1 the reasons for which are unclear, although higher rates of testing among family members were reported in a study conducted in Spain.2

It is also important for individuals who are the first person in their family to have genetic testing for inherited cancer and receive a negative result to share their results with family members. This may help to prevent unnecessary testing in the family and/or clarify the meaning of their negative result.

Tools exist to help facilitate sharing of positive test results among family members. These tools include creating a ‘family sharing letter’ to briefly describe the mutation that was found, what it means, and where relatives can access more information. 

1Barsevick AM et al. J Fam Psychol. 2008 Apr;22(2):303-12. PMID: 18410217.
2Sanz J et al. Fam Cancer. 2010 Sep;9(3):297-304. PMID: 20091130.